The IL-9 receptor gene (IL9R): Genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, 18pter
- Ludwig Institute for Cancer Research, Brussels (Belgium); and others
Cosmids containing the human IL-9 receptor (R) gene (IL9R) have been isolated from a genomic library using the IL9R cDNA as a probe. We have shown that the human IL9R gene is composed of 11 exons and 10 introns, stretching over {approx} 17 kb, and is located within the pseudoautosomal region of the Xq and Yq chromosome, in the vicinity of the telomere. Analysis of the 5` flanking region revealed multiple transcription initiation sites as well as potential binding motifs for AP1, AP2, AP3, Sp1, and NF-kB, although this region lacks a TATA box. Using the human IL9R cosmid as a probe to perform fluorescence in situ hybridization, additional signals were identified in the subtelomeric regions of chromosomes 9q, 10p, 16p, and 18p. IL9R homologs located on chromosomes 9 and 18 were partially characterized, while those located on chromosomes 16 and 10 were completely sequenced. Although they are similiar to the IL9R gene ({approx} 90% identity), none of these copies encodes a functional receptor: none of them contains sequences homologous to the 5` flanking region or exon 1 of the IL9R gene, and the remaining ORFs have been inactivated by various point mutations and deletions. Taken together, our results indicate that the IL9R gene is located at Xq28 and Yq12, in the long arm pseudoautosomal region, and that four IL9R pseudogenes are located on 9q34, 10p15, 16p13.3 and 18p11.3, probably dispersed as the result of translocations during evolution. 42 refs., 6 figs., 3 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 258275
- Journal Information:
- Genomics, Vol. 29, Issue 2; Other Information: PBD: 20 Sep 1995
- Country of Publication:
- United States
- Language:
- English
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BASIC STUDIES
HUMAN CHROMOSOMES
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
GENES
TRANSCRIPTION
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE MUTATIONS
BIOLOGICAL EVOLUTION
HETEROCHROMOSOMES
RECEPTORS
LYMPHOKINES
DNA SEQUENCING
PROBES
COSMIDS
EXONS
INTRONS
TELOMERES
DNA HYBRIDIZATION
FLUORESCENCE
PROTEINS
POLYMERASE CHAIN REACTION